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Gene

COL1A1

collagen type I alpha 1 chain

Summary

Cytogenetic location
17q21.33
Coordinates
Chromosome 17: 50,184,101–50,201,631 (GRCh38)
Exons
51 exons across 17.5 kb
Protein
1,464 amino acids
Also known as
OI4
MANE Select transcript
ENST00000225964.10NM_000088.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Ehlers-Danlos Syndrome

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

Trait report that reads COL1A1

How COL1A1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where COL1A1 sits. COL1A1 and 24 genes near it on chromosome 17, from 49,692,866 to 50,692,865.Chromosome 1717q21.33p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.349.8 Mb50 Mb50.2 Mb50.4 Mb50.6 MbSLC35B1: 49,682,022–49,709,014, reverse strandSLC35B1FAM117A: 49,710,332–49,789,180, reverse strandFAM117AKAT7: 49,788,624–49,835,026, forward strandKAT7TAC4: 49,838,300–49,848,071, reverse strandTAC4DLX4: 49,968,588–49,974,959, forward strandDLX4DLX3: 49,990,005–49,995,224, reverse strandDLX3ITGA3: 50,055,968–50,090,933, forward strandITGA3PDK2: 50,094,737–50,120,276, forward strandPDK2SAMD14: 50,110,040–50,130,160, reverse strandSAMD14PPP1R9B: 50,133,732–50,151,020, reverse strandPPP1R9BSGCA: 50,164,214–50,175,935, forward strandSGCACOL1A1: 50,184,101–50,201,631, reverse strandCOL1A1TMEM92: 50,271,406–50,281,916, forward strandTMEM92XYLT2: 50,346,080–50,363,138, forward strandXYLT2MRPL27: 50,367,293–50,373,207, reverse strandMRPL27EME1: 50,373,215–50,383,858, forward strandEME1LRRC59: 50,375,059–50,398,227, reverse strandLRRC59ACSF2: 50,426,158–50,474,845, forward strandACSF2CHAD: 50,464,478–50,468,976, reverse strandCHADRSAD1: 50,478,770–50,486,371, forward strandRSAD1MYCBPAP: 50,508,409–50,531,501, forward strandMYCBPAPEPN3: 50,532,543–50,543,750, forward strandEPN3SPATA20: 50,543,058–50,558,366, forward strandSPATA20CACNA1G: 50,560,715–50,627,474, forward strandCACNA1GABCC3: 50,634,609–50,692,631, forward strandABCC3Diagram of COL1A1: 51 exons on the reverse strand of chromosome 17Exon 51: 13 known disease-causing sitesExon 50: 23 known disease-causing sitesExon 49: 30 known disease-causing sitesExon 48: 38 known disease-causing sitesExon 47: 20 known disease-causing sitesExon 46: 11 known disease-causing sitesExon 45: 18 known disease-causing sitesExon 44: 7 known disease-causing sitesExon 43: 19 known disease-causing sitesExon 42: 11 known disease-causing sitesExon 41: 21 known disease-causing sitesExon 40: 23 known disease-causing sitesExon 39: 33 known disease-causing sitesExon 38: 5 known disease-causing sitesExon 37: 9 known disease-causing sitesExon 36: 21 known disease-causing sitesExon 35: 9 known disease-causing sitesExon 34: 4 known disease-causing sitesExon 33: 13 known disease-causing sitesExon 32: 17 known disease-causing sitesExon 31: 20 known disease-causing sitesExon 30: 7 known disease-causing sitesExon 29: 5 known disease-causing sitesExon 28: 10 known disease-causing sitesExon 27: 9 known disease-causing sitesExon 26: 17 known disease-causing sitesExon 25: 12 known disease-causing sitesExon 24: 9 known disease-causing sitesExon 23: 9 known disease-causing sitesExon 22: 7 known disease-causing sitesExon 21: 26 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 19: 24 known disease-causing sitesExon 18: 10 known disease-causing sitesExon 17: 21 known disease-causing sitesExon 16: 11 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 14: 14 known disease-causing sitesExon 13: 8 known disease-causing sitesExon 12: 11 known disease-causing sitesExon 11: 17 known disease-causing sitesExon 10: 13 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 8: 17 known disease-causing sitesExon 7: 15 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 22 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 2: 38 known disease-causing sitesExon 1: 14 known disease-causing sitesExon 51: 50,184,101–50,185,648, 1,548 basesExon 50: 50,185,778–50,186,020, 243 basesExon 49: 50,186,317–50,186,507, 191 basesExon 48: 50,186,640–50,186,922, 283 basesExon 47: 50,187,015–50,187,122, 108 basesExon 46: 50,187,484–50,187,537, 54 basesExon 45: 50,187,876–50,187,983, 108 basesExon 44: 50,188,096–50,188,149, 54 basesExon 43: 50,188,530–50,188,637, 108 basesExon 42: 50,188,742–50,188,795, 54 basesExon 41: 50,188,903–50,189,010, 108 basesExon 40: 50,189,168–50,189,275, 108 basesExon 39: 50,189,377–50,189,538, 162 basesExon 38: 50,189,679–50,189,732, 54 basesExon 37: 50,189,859–50,189,912, 54 basesExon 36: 50,190,001–50,190,108, 108 basesExon 35: 50,190,327–50,190,380, 54 basesExon 34: 50,190,543–50,190,596, 54 basesExon 33: 50,190,817–50,190,924, 108 basesExon 32: 50,191,383–50,191,490, 108 basesExon 31: 50,191,788–50,191,886, 99 basesExon 30: 50,191,980–50,192,024, 45 basesExon 29: 50,192,475–50,192,528, 54 basesExon 28: 50,192,640–50,192,693, 54 basesExon 27: 50,192,797–50,192,850, 54 basesExon 26: 50,192,994–50,193,047, 54 basesExon 25: 50,193,943–50,194,041, 99 basesExon 24: 50,194,130–50,194,183, 54 basesExon 23: 50,194,349–50,194,447, 99 basesExon 22: 50,194,573–50,194,626, 54 basesExon 21: 50,194,721–50,194,828, 108 basesExon 20: 50,195,047–50,195,100, 54 basesExon 19: 50,195,232–50,195,330, 99 basesExon 18: 50,195,434–50,195,478, 45 basesExon 17: 50,195,567–50,195,665, 99 basesExon 16: 50,195,923–50,195,976, 54 basesExon 15: 50,196,155–50,196,199, 45 basesExon 14: 50,196,314–50,196,367, 54 basesExon 13: 50,196,484–50,196,528, 45 basesExon 12: 50,196,617–50,196,670, 54 basesExon 11: 50,197,010–50,197,063, 54 basesExon 10: 50,197,180–50,197,233, 54 basesExon 9: 50,197,732–50,197,785, 54 basesExon 8: 50,197,949–50,198,002, 54 basesExon 7: 50,198,161–50,198,205, 45 basesExon 6: 50,198,433–50,198,504, 72 basesExon 5: 50,199,226–50,199,327, 102 basesExon 4: 50,199,418–50,199,453, 36 basesExon 3: 50,199,556–50,199,590, 35 basesExon 2: 50,199,753–50,199,947, 195 basesExon 1: 50,201,411–50,201,631, 221 bases51504540353025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.9 kb of the gene's 17.5 kb; 4,395 of those bases code for the protein.

How a genome test reads COL1A1

930

positions in COL1A1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.5 kb of COL1A1, introns included, not only the 5.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). COL1A1 gene: collagen type I alpha 1 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col1a1

Vancouver

Dante Labs. COL1A1 gene: collagen type I alpha 1 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col1a1

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